Gene
GANAB
glucosidase II alpha subunit
- HGNC 4138↗(opens in a new tab)
- Ensembl gene ENSG00000089597↗(opens in a new tab)
- NCBI Gene 23193↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q12.3
- Coordinates
- Chromosome 11: 62,624,829–62,646,613 (GRCh38)
- Exons
- 24 exons across 21.8 kb
- Protein
- 944 amino acids
- Also known as
- GluII, G2AN, KIAA0088, GIIA, GIIalpha
- MANE Select transcript
- ENST00000356638.8NM_198334.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated report relevant to this gene
Polycystic Kidney Disease
A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Tolvaptan (Jynarque, FDA 2018) for rapidly progressive ADPKD; blood pressure control (target <110/75); pain management; cyst infection treatment; brain MRA screening for intracranial aneurysms; kidney transplantation for ESRD
How GANAB is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.8 kb of the gene's 21.8 kb; 2,835 of those bases code for the protein.
How a genome test reads GANAB
39
positions in GANAB where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 21.8 kb of GANAB, introns included, not only the 3.8 kb of exons.
Genes linked to the same conditions
- ALG5ALG5 dolichyl-phosphate beta-glucosyltransferaseShares 1 condition
- ALG8ALG8 alpha-1,3-glucosyltransferaseShares 1 condition
- ALG9ALG9 alpha-1,2-mannosyltransferaseShares 1 condition
- DNAJB11DnaJ heat shock protein family (Hsp40) member B11Shares 1 condition
- DZIP1LDAZ interacting zinc finger protein 1 likeShares 1 condition
- IFT140intraflagellar transport 140Shares 1 condition
- NEK8NIMA related kinase 8Shares 1 condition
- PKD1polycystin 1, transient receptor potential channel interactingShares 1 condition
- PKD2polycystin 2, transient receptor potential cation channelShares 1 condition
- PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductinShares 1 condition
Traits linked to GANAB
The Human Phenotype Ontology lists these as features of the rare conditions GANAB can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). GANAB gene: glucosidase II alpha subunit. Retrieved 16 October 2026, from https://dantelabs.com/genes/ganab
Dante Labs. GANAB gene: glucosidase II alpha subunit [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ganab
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